Klinefelter syndrome
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Klinefelter syndrome
Genetics
Population genetics
Mendelian genetics and punnett squares
Hardy-Weinberg equilibrium
Inheritance patterns
Independent assortment of genes and linkage
Evolution and natural selection
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
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Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
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Lesch-Nyhan syndrome
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Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
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Klinefelter syndrome
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Klinefelter syndrome
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2016
Estrogen p. 654, 680
Klinefelter syndrome p. 661
Follicle-stimulating hormone (FSH)
Klinefelter syndrome p. 661
Gynecomastia p. 673
Klinefelter syndrome p. 661
Hypogonadism
Klinefelter syndrome p. 661
Infertility
Klinefelter syndrome p. 661
Inhibin
Klinefelter syndrome p. 661
Klinefelter syndrome p. 661
chromosome association p. 62
gynecomastia p. 673
testicular tumors p. 676
Luteinizing hormone (LH)
Klinefelter syndrome p. 661
Testosterone p. 652, 682
Klinefelter syndrome p. 661
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Transcript
Content Reviewers
Rishi Desai, MD, MPHContributors
Tanner Marshall, MS
Klinefelter syndrome, named after Dr. Harry Klinefelter who first identified it, is a chromosomal problem where a person with an XY genotype - biologically a male - inherits at least one extra X-chromosome, and sometimes a few extra ones.
Having an extra X chromosome makes the testicular cells generate less testosterone, which is the hormone responsible for primary sex characteristics like development of the sex organs as well as secondary sex characteristics like height and body shape.
It’s worth mentioning up front, that we’re using the term male here, rather than boy or man, to talk about the biological category of a person’s sex rather than a person’s gender identity.
Now, in puberty, in both males and females, the hypothalamus starts to release more gonadotropin releasing hormone, which gets the pituitary gland to release luteinizing hormone and follicle-stimulating hormone.
In males, these hormones affect the Leydig cells and the Sertoli cells.
The Leydig cells are in the interstitium of the testes, and in response to luteinizing hormone they convert cholesterol into testosterone.
The testosterone along with follicle-stimulating hormone, then stimulate Sertoli cells in the seminiferous tubules of the testes to make more sperm.
To main balance or homeostasis, testosterone reduces gonadotropin releasing hormone and luteinizing hormone, and Sertoli cells release the hormone inhibin which inhibits release of follicle-stimulating hormone.
In Klinefelter syndrome, this hormone balance is altered.
The extra X-chromosome interrupts the normal function of the Sertoli and Leydig cells.
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